Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.R2248H
Back to variants list

NF1

NM_000267.3:p.R2248H

Associated Papers

Clinical features associated with NeoRAS wild-type metastatic colorectal cancer A SCRUM-Japan GOZILA substudy.

Osumi H et al.

Nature Communications, 2024

39003289 (PubMed )
Supplement: 41467_2024_50026_MOESM7_ESM.xlsx › Supplemental_Data_3

Undifferentiated Carcinoma with Osteoclast-like Giant Cells of the Pancreas: Molecular Genetic Analysis of 13 Cases.

Hrudka J et al.

International Journal of Molecular Sciences, 2024

38542259 (PubMed )
Supplement: ijms-25-03285-s001.zip › ijms-2897629-supplementary.xlsx › ID2

Identification of an optimal mutant allele frequency to detect activating KRAS, NRAS, and BRAF mutations in a commercial cell-free DNA next-generation sequencing assay in colorectal and pancreatic adenocarcinomas.

Caughey BA et al.

Journal of Gastrointestinal Oncology, 2023

Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform.

Calì F et al.

European Journal of Medical Genetics, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."